These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

189 related articles for article (PubMed ID: 8434583)

  • 1. Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.
    Ketterling RP; Vielhaber E; Bottema CD; Schaid DJ; Cohen MP; Sexauer CL; Sommer SS
    Am J Hum Genet; 1993 Jan; 52(1):152-66. PubMed ID: 8434583
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.
    Koeberl DD; Bottema CD; Ketterling RP; Bridge PJ; Lillicrap DP; Sommer SS
    Am J Hum Genet; 1990 Aug; 47(2):202-17. PubMed ID: 2198809
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Germ line origins of de novo mutations in hemophilia B families.
    Thompson AR; Chen SH
    Hum Genet; 1994 Sep; 94(3):299-302. PubMed ID: 8076948
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age.
    Ketterling RP; Vielhaber E; Li X; Drost J; Schaid DJ; Kasper CK; Phillips JA; Koerper MA; Kim H; Sexauer C; Gruppo R; Ambriz R; Paredes R; Sommer SS
    Hum Genet; 1999 Dec; 105(6):629-40. PubMed ID: 10647899
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nine independent F9 mutations in the Mexican hemophilia B population: nonrandom recurrences of point mutation events in the human germline.
    Jaloma-Cruz AR; Scaringe WA; Drost JB; Roberts S; Li X; Barros-Núñez P; Figuera LE; Rivas F; Cantú JM; Sommer SS
    Hum Mutat; 2000 Jan; 15(1):116-7. PubMed ID: 10612837
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Human germline mutation in the factor IX gene.
    Sommer SS; Scaringe WA; Hill KA
    Mutat Res; 2001 Nov; 487(1-2):1-17. PubMed ID: 11595404
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.
    Bottema CD; Ketterling RP; Yoon HS; Sommer SS
    Am J Hum Genet; 1990 Nov; 47(5):835-41. PubMed ID: 2220823
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Recent human germ-line mutation: inferences from patients with hemophilia B.
    Sommer SS
    Trends Genet; 1995 Apr; 11(4):141-7. PubMed ID: 7732592
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Parental origin of factor IX gene mutations, and their distribution in the gene.
    Ludwig M; Grimm T; Brackmann HH; Olek K
    Am J Hum Genet; 1992 Jan; 50(1):164-73. PubMed ID: 1346077
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene.
    Sommer SS
    FASEB J; 1992 Jul; 6(10):2767-74. PubMed ID: 1634040
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.
    Chen SH; Zhang M; Lovrien EW; Scott CR; Thompson AR
    Hum Genet; 1991 Jun; 87(2):177-82. PubMed ID: 2066105
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene.
    Bottema CD; Ketterling RP; Vielhaber E; Yoon HS; Gostout B; Jacobson DP; Shapiro A; Sommer SS
    Hum Genet; 1993 Jun; 91(5):496-503. PubMed ID: 8314564
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations.
    Knobloch O; Zoll B; Zerres K; Brackmann HH; Olek K; Ludwig M
    Hum Genet; 1993 Aug; 92(1):40-8. PubMed ID: 8365725
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.
    Giannelli F; Anagnostopoulos T; Green PM
    Am J Hum Genet; 1999 Dec; 65(6):1580-7. PubMed ID: 10577911
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.
    Vidaud D; Tartary M; Costa JM; Bahnak BR; Gispert-Sanchez S; Fressinaud E; Gazengel C; Meyer D; Goossens M; Lavergne JM
    Hum Genet; 1993 Apr; 91(3):241-4. PubMed ID: 8478007
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.
    Mahajan A; Chavali S; Kabra M; Chowdhury MR; Bharadwaj D
    Haematologica; 2004 Dec; 89(12):1498-503. PubMed ID: 15590401
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations.
    Mårtensson A; Letelier A; Halldén C; Ljung R
    Haemophilia; 2016 May; 22(3):440-5. PubMed ID: 26612714
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects.
    Thorland EC; Weinshenker BG; Liu JZ; Ketterling RP; Vielhaber EL; Kasper CK; Ambriz R; Paredes R; Sommer SS
    Thromb Haemost; 1995 Dec; 74(6):1416-22. PubMed ID: 8772212
    [TBL] [Abstract][Full Text] [Related]  

  • 19. T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.
    Ketterling RP; Bottema CD; Koeberl DD; Ii S; Sommer SS
    Hum Genet; 1991 Jul; 87(3):333-7. PubMed ID: 1864609
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.
    Koeberl DD; Bottema CD; Sarkar G; Ketterling RP; Chen SH; Sommer SS
    Hum Genet; 1990 Apr; 84(5):387-90. PubMed ID: 1969838
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.